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A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.
Le Saux O, Beck K, Sachsinger C, Silvestri C, Treiber C, Göring HH, Johnson EW, De Paepe A, Pope FM, Pasquali-Ronchetti I, Bercovitch L, Marais AS, Viljoen DL, Terry SF, Boyd CD. Le Saux O, et al. Among authors: terry sf. Am J Hum Genet. 2001 Oct;69(4):749-64. doi: 10.1086/323704. Epub 2001 Aug 31. Am J Hum Genet. 2001. PMID: 11536079 Free PMC article.
Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum.
Pfendner EG, Vanakker OM, Terry SF, Vourthis S, McAndrew PE, McClain MR, Fratta S, Marais AS, Hariri S, Coucke PJ, Ramsay M, Viljoen D, Terry PF, De Paepe A, Uitto J, Bercovitch LG. Pfendner EG, et al. Among authors: terry pf, terry sf. J Med Genet. 2007 Oct;44(10):621-8. doi: 10.1136/jmg.2007.051094. Epub 2007 Jul 6. J Med Genet. 2007. PMID: 17617515 Free PMC article.
Acquired pseudoxanthoma elasticum presenting after liver transplantation.
Bercovitch L, Martin L, Chassaing N, Hefferon TW, Bessis D, Vanakker O, Terry SF. Bercovitch L, et al. Among authors: terry sf. J Am Acad Dermatol. 2011 May;64(5):873-8. doi: 10.1016/j.jaad.2010.03.030. Epub 2011 Mar 12. J Am Acad Dermatol. 2011. PMID: 21397982 Free PMC article.
246 results